Unal Ozlem, Ozgen Burce, Orhan Diclehan, Tokatli Aysegul, Hismi Burcu Ozturk, Dursun Ali, Coskun Turgay, Kalkanoglu-Sivri H Serap
1Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey.
J Child Neurol. 2013 Nov;28(11):1509-1512. doi: 10.1177/0883073812458711. Epub 2012 Sep 18.
Vanishing white matter disease is one of the most prevalent leukodystrophies in childhood. It is caused by mutations in any of the genes encoding the 5 subunits of the eukaryotic translation initiation factor 2B (eIF2B), EIF2B1 through EIF2B5. Phenotypic variation is wide and it may affect people of all ages. Here we present a child with vanishing white matter who had hepatomegaly and hypertriglyceridemia attacks along with neurologic deterioration episodes. He was found heterozygous for the 2 mutations c.817 A>C, p.Lys273Gln and c.939_948del, p.Asp314ProfsX23 in the gene EIF2B2. Until today, this association was not defined in the literature.
消失性白质病是儿童期最常见的脑白质营养不良症之一。它由编码真核生物翻译起始因子2B（eIF2B）5个亚基（EIF2B1至EIF2B5）的任何基因发生突变引起。表型变异范围广泛，可能影响所有年龄段的人。在此，我们报告一名患有消失性白质病的儿童，其伴有肝肿大、高甘油三酯血症发作以及神经功能恶化发作。在EIF2B2基因中，发现他携带c.817 A>C、p.Lys273Gln和c.939_948del、p.Asp314ProfsX23这两个突变的杂合子。直至今日，这种关联在文献中尚未有明确记载。
